Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome. - Archive ouverte HAL Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2011

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.

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Abstract

We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)-array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed. © 2011 Wiley-Liss, Inc.

Dates and versions

inserm-00588628 , version 1 (25-04-2011)

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André Mégarbané, Eliane Chouery, Cecile Mignon-Ravix, Sandra El Sabbagh, Sandra Corbani, et al.. Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.. American Journal of Medical Genetics Part A, 2011, 155 (5), pp.1147-51. ⟨10.1002/ajmg.a.33938⟩. ⟨inserm-00588628⟩
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